HAC (Russian)
RSCI (Russian)
Ulrichsweb (Ulrich’s Periodicals Directory)
Scientific Indexing Services

Bicuspid aortic valve: anatomy, physiopathology, clinical presentations

DOI: https://doi.org/10.29296/25877305-2023-08-01

Professor W. Delyagin(1), MD; K. Amir-Zade(2)
1-Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology, and Immunology, Moscow
2-N.I. Pirogov Russian National Research Medical University, Ministry of Health
of Russia, Москва

The bicuspid aortic valve (AoV) (BAV) occurs in about 1% of the population, while the probability of its observation in first-degree relatives is 9-10%. Familial aortic aneurysm in BAV is inherited as an autosomal dominant disease with incomplete penetrance. BAV accompanies connective tissue dysplasia, congenital cardiovascular defects, aortic coarctation, Turner syndrome, etc., is frequently concurrent with cardiac arrhythmias, general somatic, and neuropsychiatric disorders. The basis of diagnosis is transthoracic echocardiography (EchoCG). If needed, transesophageal EchoCG, magnetic resonance imaging and/or computed tomography of the heart are performed. Persons with BAV, even without stenosis or valve insufficiency, are frequently recorded to have dilation of the ascending aorta and/or its root. Aortic dilation may occur many years after the detection of BAV, more often in valve insufficiency. Abnormal systolic blood flow through the BAV leads to regional aortic wall tension and promotes the development of aortopathy that is manifested as aortic aneurysm and dissection. Arthropathy develops in the presence of cystic media damage, activation of matrix metalloproteinases, and apoptosis. The aim of interdisciplinary management in patients with BAV is the prevention of circulatory disorders, the early detection of complications and the identification of a group of patients to be referred to cardiac surgeons. Taking into account the fact aortic aneurysm may develop late, therapeutic monitoring should be continued after surgical correction of valve abnormality. During a follow-up, BAV should be considered as a manifestation of the systemic process.

bicuspid aortic valve
connective tissue dysplasia
congenital defects
interdisciplinary and interprofessional follow-up.

  1. Piazza N., de Jaegere P., Schultz C. et al. Anatomy of the aortic valvular complex and its implications for transcatheter implantation of the aortic valve. Circ Cardiovasc Interv. 2008; 1 (1): 74–81. DOI: 10.1161/CIRCINTER-VENTIONS.108.780858
  2. Braverman A., Guven H., Beardslee M. et al. The bicuspid aortic valve. Curr Probl Cardiol. 2005; 30 (9): 470–522. DOI: 10.1016/j.cpcardiol.2005.06.002
  3. Braverman A., Cheng A. The bicuspid aortic valve and associated aortic disease. In: Otto C., Bonow R. (Eds.) Valvular Heart Disease, 5th Ed. Saunders/Elsevier, 2021; pp. 197–223.
  4. Tutar E., Ekici F., Atalay S. et al. The prevalence of bicuspid aortic valve in newborns by echocardiographic screening. Am Heart J. 2005; 150 (3): 513–5. DOI: 10.1016/j.ahj.2004.10.036
  5. Nistri S., Basso C., Marzari C. et al. Frequency of bicuspid aortic valve in young male conscripts by echocardiogram. Am J Cardiol. 2005; 96 (5): 718–21. DOI: 10.1016/j.amjcard.2005.04.051
  6. Hui D., Bonow R., Stolker J. et al. Discordant aortic valve morphology in monozygotic twins: a clinical case series. JAMA Cardiol. 2016; 1 (9): 1043–7. DOI: 10.1001/jamacardio.2016.2522
  7. Galian-Gay L., Carro Hevia A., Teixido-Turà G. et al. Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives. Heart. 2019; 105 (8): 603–8. DOI:10.1136/heartjnl-2018-313802
  8. Prakash S., Bosse Y., Muehlschlegel J. et al. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol. 2014; 64 (8): 832–9. DOI: 10.1016/j.jacc.2014.04.073
  9. Laforest B., Andelfinger G., Nemer M. Loss of Gata5 in mice leads to bicuspid aortic valve. J Clin Invest. 2011; 121 (7): 2876–87. DOI: 10.1172/JCI44555
  10. Hiraki N., Tanaka T., Yoshimura M. A Man with Left Ventricular Hypertrophy. JAMA Cardiol. 2022; 7 (2): 225–6. DOI: 10.1001/jamacardio.2021.5144
  11. Michelena H., Prakash S., Della Corte A. et al. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation. 2014; 129 (25): 2691–704. DOI: 10.1161/CIRCULATIONAHA.113.007851
  12. Sievers H., Stierle U., Hachmann R. et al. New insights in the association between bicuspid aortic valve phenotype, aortic configuration and valve haemodynamics. Eur J Cardiothorac Surg. 2016; 49 (2): 439–46. DOI: 10.1093/ejcts/ezv087
  13. Sillesen A.-S., Vøgg O., Pihl Ch. et al. Prevalence of Bicuspid Aortic Valve and Associated Aortopathy in Newborns in Copenhagen, Denmark. JAMA. 2021; 325 (6): 561–7. DOI: 10.1001/jama.2020.27205
  14. Liu T., Xiel M., Qing L. et al. Bicuspid Aortic Valve: An Update in Morphology, Genetics, Biomarker, Complications, Imaging Diagnosis and Treatment. Front Physiol. 2019; 30 (9): 1921. DOI: 10.3389/fphys.2018.01921
  15. Kong W., Delgado V., Poh K. et al. Prognostic implications of raphe in bicuspid aortic valve anatomy. JAMA Cardiol. 2017; 2 (3): 285–92. DOI: 10.1001/jamacardio.2016.5228
  16. Guala A., Dux-Santoy L., Teixido-Tura G. et al. La presencia de rafe en la válvula aórtica bicúspide normofuncionante no altera la hemodinámica ni la rigidez aórtica. Revista Española de Cardiologia. 2020; 1: 89–90. DOI: 10.1016/j.rec.2019.06.005
  17. Verna S., Siu S. Aortic dilatation in patients with bicuspid aortic valve. N Engl J Med. 2014; 370 (20): 1920–9. DOI: 10.1056/NEJMra1207059
  18. Michelena H., Desjardins V., Avierinos J.-F. et al. Natural history of asymptomatic patients with normally functioning or minimally dysfunctional bicuspid aortic valve in the community. Circulation. 2008; 117 (21): 2776–84. DOI: 10.1161/CIRCULATIONAHA.107.740878
  19. Niaz T., Poterucha J., Johnson J. et al. Incidence, morphology, and progression of bicuspid aortic valve in pediatric and young adult subjects with coexisting congenital heart defects. Congenit Heart Dis. 2017; 12 (3): 261–9. DOI: 10.1111/chd.12429
  20. Rodrigues I., Agapito A., de Sousa L. et al. Bicuspid aortic valve outcomes. Cardiol Young. 2016; 27 (3): 518–29. doi: 10.1017/S1047951116002560
  21. Granath C., Mohamed S., Olsson C. et al. Valve disease and aortopathy associations of bicuspid aortic valve phenotypes differ between men and women. Open Heart. 2021; 8: e001857. DOI: 10.1136/openhrt-2021- 001857
  22. Guzzardi D., Barker A., van Ooij P. et al. Valve-Related Hemodynamics Mediate Human Bicuspid Aortopathy: Insights from Wall Shear Stress Mapping. J Am Coll Cardiol. 2015; 66 (8): 892–900. DOI: 10.1016/j.jacc.2015.06.1310
  23. Hales A., Mahle W. Echocardiography screening of siblings of children with bicuspid aortic valve. Pediatrics. 2014; 133 (5): 1212–7. DOI: 10.1542/peds.2013-3051
  24. Hillebrand M., Koschyk D., Ter Hark P. et al. Diagnostic accuracy study of routine echocardiography for bicuspid aortic valve: a retrospective study and meta-analysis. Cardiovasc Diagn Ther. 2017; 7 (4): 367–79. DOI: 10.21037/cdt.2017.05.03
  25. Kim K., Lee S., Seu J. et al. Assessment of aortic valve area on cardiac computed tomography in symptomatic bicuspid aortic stenosis: Utility and differences from Doppler echocardiography. Front Cardiovasc Med. 2022; 9: 1035244. DOI: 10.3389/fcvm.2022.1035244
  26. Tzemos N., Therrien J., Yip J. et al. Outcomes in adults with bicuspid aortic valves. JAMA. 2008; 300 (11): 1317–25. DOI: 10.1001/jama.300.11.1317
  27. Cheng Ch., Bohbot Y., Michelena H. et al. Clinical outcomes of Adult with Bicuspid Aortic Valve. A European perspective. Mayo Clin Proc. 2022; 96 (3): 648–57. DOI: 10.1016/J.mayocp.2020.04.047
  28. Niaz T., Jomson J., Cetta F. et al. Sex Differences in Children and Young Adults with Bicuspid Aortic Valve Disease in First Two Decades of Life. Mayo Clin Proc. 2021; 96 (7): 1874–87. DOI: 10.1016/J.mayocp.2020.12.033
  29. Roberts W., Vowels T., Ko J. Natural history of adults with congenitally malformed aortic valves (unicuspid or bicuspid). Medicine (Baltimore). 2012; 91 (6): 287–308. DOI: 10.1097/MD.0b013e3182764b84
  30. Wilson W., Taubert K., Gewitz M. et al. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Circulation. 2007; 116 (15): 1736–54. DOI: 10.1161/CIRCULATIONAHA.106.183095
  31. Tribouilloy C., Rusinaru D., Sorel C. et al. Clinical characteristics and outcome of infective endocarditis in adults with bicuspid aortic valves: a multicentre observational study. Heart. 2010; 96 (21): 1723–9. DOI: 10.1136/hrt.2009.189050
  32. Kiyota Y., Della Corte A., Vieira V. et al. Risk and outcomes of aortic valve endocarditis among patients with bicuspid and tricuspid aortic valves. Open Heart. 2017; 4 (1): e000545. DOI: 10.1136/openhrt-2016-000545
  33. Le T., Graham N., Naeem A. et al. Aortic valve endocarditis in patients with bicuspid and tricuspid aortic valves. JTCVS Open. 2021; 8: 228–36. DOI: 10.1016/j.xjon.2021.09.007
  34. Nishimura R., Otto C., Bonow R. et al. 2014 AHA/ACC guideline for the management of patients with valvular heart disease: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Circulation. 2014; 129 (23): 2440–92. DOI: 10.1161/CIR.0000000000000029
  35. Hiratzka L., Creager M., Isselbacher E. et al. Surgery for aortic dilatation in patients with bicuspid aortic valves: a statement of clarification from the American College of Cardiology (ACC)/American Heart Association (AHA) task force on clinical practice guidelines. Circulation. 2016; 133 (7): 680–6. DOI: 10.1161/CIR.0000000000000331
  36. Braverman A., Harris K., Kovacs R. et al. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 7: aortic diseases, including Marfan syndrome: a scientific statement from the American Heart Association and American College of Cardiology. J Am Coll Cardiol. 2015; 66 (21): 2398–405. DOI: 10.1016/j.jacc.2015.09.039
  37. Erbel R., Aboyans V., Boileau C. et al. 2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014; 35 (41): 2873–926. DOI: 10.1093/eurheartj/ehu281
  38. Borger M., Fedak P., Stephens E. et al. The American Association for Thoracic Surgery (AATS) consensus guidelines on bicuspid aortic valve-related aortopathy: executive summary. J Thorac Cardiovasc Surg. 2018; 156 (2): 473–80. DOI: 10.1016/j.jtcvs.2017.10.161
  39. Niaz T., Fernandes S., Sanders St. et al. Clinical history and management of bicuspid aortic valve in children and adolescents. Prog Cardiovasc Dis. 2020; 63 (4): 425–33. DOI: 10.1016/j.pcad.2020.05.012
  40. Otto C. The practice of clinical echocardiography. 6th Ed., 2021.